Among 1,711 early-stage breast cancer patients with indications for counseling, 43.5% received formal genetic risk counseling, while 31.1% had a discussion with their physician about their genetic risk and 25.4% had no discussion whatsoever.

"All cancer specialties have the opportunity and responsibility to incorporate genetic counseling more fully into breast cancer management," wrote Steven J. Katz, MD, MPH, of the University of Michigan in Ann Arbor, and colleagues in the Journal of Clinical Oncology.

Among all patients with an indication for counseling studied, 831 patients never received a genetic test following their breast cancer diagnosis -- only half of those (50.6%) underwent a discussion about their genetic risk.

In those who did get tested, 680 (40.7%) had a negative genetic test result, 7.4% had a genetic variant of uncertain significance, and 4.5% had a pathogenic mutation detected.

Younger women were more likely to have received counseling compared with women age 70 and older: odds ratios of 4.5 (95% CI 2.6 to 8.0) for women younger than 50, 1.9 (95% CI 1.1 to 3.3) for those ages 50 to 59, and 1.5 (95% CI 1.0 to 2.3) for women ages 60 to 69.

"The key decision point is in the surgeon's office before surgery," Katz told MedPage Today. "Genetic counselors play an important role, but patients will not get timely risk evaluation -- counseling and appropriate testing -- without the leadership of surgeons to implement this evaluation into their practices."

Approximately a third of breast cancer patients have an elevated mutation risk -- due to either a family history of cancer or tumor characteristics -- and are indicated for a genetic risk evaluation. Multigene panel testing seems to be replacing BRCA1/2-only testing and requires more counseling expertise, the authors noted.

Genetic counselors are trained to determine what is the right test, based on a patient's history, and how best to interpret the results. Genetic counselors also may discover a risk for other cancers or identify other members of a patient's family who are eligible for genetic testing.

The iCanCare study surveyed 5,080 patients from Georgia and Los Angeles County who were diagnosed with early-stage breast cancer from July 2013 to August 2015 and whose information was reported to Surveillance, Epidemiology and End Results (SEER) registries. The researchers linked this data to genetic test results and found 1,711 patients with indications for a formal genetic risk evaluation.

"The classic model of having a patient meet formally with a genetic counselor prior to testing is quickly becoming impossible in many practical, real-life situations," Erin Hofstatter, MD, co-director of the Cancer Genetics and Prevention Program at Yale Cancer Center in New Haven, CT, told MedPage Today. "The supply of genetic counselors has not kept up with exploding demands, especially as we oncologists contemplate broader testing of our patients."

Hofstatter, who was not involved with the research, noted that according to the study, patients do not appear to be dissatisfied with physician-led discussions about their genetic risk.

The study asked patients to assess the amount of information they received on whether to get a genetic test: 80.8% of those counseled by a genetics expert stated that the amount of information given was "just right," versus 79.4% of those who received counseling by a physician (P=0.59).

"That said, we do not know from this paper whether the counseling they received was 100% accurate," she said. "The risk in having physicians send their own testing -- particularly when making surgical decisions based on testing results, is that the result will be misinterpreted and lead to unnecessary surgeries."

Hofstatter pointed out that this data points to a need to rethink how genetic risk evaluations are performed -- in part due to the increasing need for testing now that novel agents are indicated for patients with BRCA1/2 mutations -- and suggested possible next steps:

determine ways to improve universal access to genetic counselors by increasing their numbers in the workforce and making sure these services are covered by insurance

determine a new triage system to identify patients best served by formal genetic counseling versus those who could be counseled by their physicians

improve training of physicians so they are better equipped to understand the nuances of testing results

"While perfect should not be the enemy of good," Hofstatter said, "physicians should acknowledge that they may -- at least for now -- do well to seek the advice of a genetics expert before using the testing results to make treatment decisions in their patients."

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